Greene Carol L, Saenz-Ayala Sofia, Strovel Erin T, Rossignol Francis, Ferreira Carlos R, Blau Nenad
University of Maryland School of Medicine, Department of Pediatrics, Division of Genetics, Baltimore, MD 21201, USA.
University of Maryland School of Medicine, Department of Pediatrics, Division of Genetics, Baltimore, MD 21201, USA.
Mol Genet Metab. 2025 Jan;144(1):109001. doi: 10.1016/j.ymgme.2024.109001. Epub 2024 Dec 13.
Dysmorphisms, or physical abnormalities in appearance, can vary in frequency and severity among individuals with inherited metabolic disorders (IMD). The prevalence of dysmorphisms in these disorders can range from rare occurrences to more common features, depending on the specific disorder and its genetic characteristics. It is important to note that not all individuals with IMDs will exhibit dysmorphic features, and the presence of such features may vary widely among different types of metabolic disorders. The data presented in this study, which includes a detailed list of 374 IMDs with dysmorphic characteristics categorized by affected organs (such as head and face, nose, mouth and tongue, eye, ear, hands and feet, and others), as well as an overview of important clinical features and recommended diagnostic strategies, could be valuable for professionals in the field of healthcare. This information may be particularly useful for healthcare providers who treat individuals with metabolic disorders or those who care for individuals exhibiting dysmorphic features that could indicate the presence of an inherited metabolic disorder.
畸形,即外观上的身体异常,在患有遗传性代谢紊乱(IMD)的个体中,其出现频率和严重程度可能各不相同。这些疾病中畸形的患病率范围很广,从罕见情况到较为常见的特征都有,这取决于具体的疾病及其遗传特征。需要注意的是,并非所有患有IMD的个体都会表现出畸形特征,而且这些特征在不同类型的代谢紊乱中可能差异很大。本研究呈现的数据,包括一份按受影响器官(如头面部、鼻子、嘴巴和舌头、眼睛、耳朵、手脚等)分类的374种具有畸形特征的IMD详细列表,以及重要临床特征概述和推荐的诊断策略,可能对医疗保健领域的专业人员有价值。这些信息对于治疗患有代谢紊乱的个体或照顾表现出可能表明存在遗传性代谢紊乱的畸形特征个体的医疗保健提供者可能特别有用。